“Face of the Giant Panda” Sign in Wilson Disease

摘要

Wilson disease (hepatolenticular degeneration) is anautosomal recessive disorder caused by mutations of the Wilsondisease (ATP7B) protein produced by chromosome 13. Itmanifests with an inability to excrete copper in bile, and copperdeposition in liver, brain, and other organs. Clinical signs andsymptoms include liver function and psychiatric disorders.Although copper accumulation mostly occurs in the basalganglia, it may involve all parts of the brain. Brain magneticresonance imaging (MRI) is a useful diagnostic tool and helpsdetermine disease severity and treatment response (1,2,3).